Clinical and genetic spectrum of GSD type 6 in Korea
Clinical and genetic spectrum of GSD type 6 in Korea
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, genetic analyses, and long-term outcomes of patients with GSD VI in Korea.
From January 2002 to November 2022, we retrospectively review...
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Full title
Clinical and genetic spectrum of GSD type 6 in Korea
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TN_cdi_doaj_primary_oai_doaj_org_article_47e9f9707c604fa788fffc5c5747cde7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_47e9f9707c604fa788fffc5c5747cde7
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02750-1
